菜单 基因医生

该基因编码一种特异性结合核基质结合区的dna结合蛋白。编码蛋白参与转录调控和染色质重塑该基因缺陷与孤立性腭裂和认知功能障碍有关交替剪接导致编码相同蛋白质的多个转录变体[由RefSeq提供,2010年2月]
This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

基因名:SATB2
别名:GLSS
基因ID:23314
Chromosome:
(GRCh37)
2 Start: 200134223 End: 200335989 Strand: 
信号通路:  
SATB2 基因突变与药物